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Details on Person Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion
| Class:Id | LiteratureReference:9672910 |
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| _displayName | Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion |
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| _timestamp | 2020-01-03 15:43:30 |
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| author | [Person:8870511] Yamada, Kenichiro
[Person:9672918] Aiba, Kaori
[Person:9672915] Kitaura, Yasuyuki
[Person:9672916] Kondo, Yusuke
[Person:8870508] Nomura, Noriko
[Person:9672912] Nakamura, Yuji
[Person:9672913] Fukushi, Daisuke
[Person:8855041] Murayama, Kei
[Person:70876] Shimomura, Y
[Person:9672917] Pitt, James
[Person:9672911] Yamaguchi, Seiji
[Person:9672914] Yokochi, Kenji
[Person:8870500] Wakamatsu, Nobuaki |
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| created | [InstanceEdit:9672919] D'Eustachio, Peter, 2020-01-03 |
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| journal | J. Med. Genet. |
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| modified | [InstanceEdit:9672921] D'Eustachio, Peter, 2020-01-03 |
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| pages | 691-8 |
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| pubMedIdentifier | 26251176 |
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| title | Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion |
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| volume | 52 |
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| year | 2015 |
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| (literatureReference) | [CatalystActivityReference:9672920] enoyl-CoA hydratase activity of ECHS1 hexamer [mitochondrial matrix] Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion
[EntityWithAccessionedSequence:9916683] A138V ECHS1 [mitochondrial matrix] [Homo sapiens]
[EntityWithAccessionedSequence:9916684] N59S ECHS1 [mitochondrial matrix] [Homo sapiens]
[Reaction:70870] ECHS1 hydrates methacrylyl-CoA [Homo sapiens]
[FailedReaction:9916717] ECHS1 mutants don't synthesize beta-hydroxyisobutyryl-CoA [Homo sapiens]
[Pathway:9916720] Mitochondrial short-chain enoyl-CoA hydratase deficiency 1 [Homo sapiens] |
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